Pennsylvania mom seeks ‘perfect match’ bone marrow donor to cure daughter’s rare disorder – MASHAHER

A 10-year-old girl in Pennsylvania is in dire need of a bone marrow transplant — and her mother is on a mission to find the perfect match.

Lani Walter suffers from a disease called DOCK8 deficiency (dedicator of cytokinesis 8 deficiency), an immunodeficiency syndrome that can cause recurrent, life-threatening infections. 

DOCK8 is very rare, with only 250 people worldwide currently diagnosed, statistics show. The only cure for DOCK8 is a bone marrow transplant — also known as a hematopoietic stem cell transplant (HSCT).

YOUNG GIRL SURVIVES CANCER THANKS TO LITTLE SISTER’S LIFESAVING DONATION: ‘A PERFECT MATCH’

Ashleigh Walter, a kindergarten teacher, is pleading for people to join the bone marrow/blood stem cell registry to help her daughter find a donor by summer.

“Time is of the essence,” she told Fox News Digital.

Search for answers

Walter’s daughter was diagnosed with DOCK8 when she was 7½ years old, the culmination of a long series of symptoms and illnesses.

“Lani’s health issues started at just a couple of months old,” Walter told Fox News Digital during an interview. “As a baby, she had full-body eczema from head to toe and continuous ear infections.”

At 11 months old, she was diagnosed with severe allergies to eggs, milk, peanuts, tree nuts and many other foods. She’s also experienced continuous skin infections and staph infections.

In Jan. 2021, the family was invited to a clinic at the Children’s Hospital of Philadelphia (CHOP), where Walter’s daughter was able to see specialists from immunology, allergy and dermatology together in one appointment.

NEW JERSEY WOMAN RECOVERING AFTER RECEIVING SUCCESSFUL PIG KIDNEY TRANSPLANT

“They all came together to try and figure out what might be going on,” Walter said. “Each of the specialties ran their own special bloodwork to see what was going on with Lani.”

The results showed some abnormalities in the immune system, and doctors recommended doing genetic testing.

A few months later, the family received the news that Walter’s daughter has two variants of the DOCK8 gene.

“If you have issues on both sides of the gene, that’s when you present with the disorder,” Walter said. “Testing showed that both my husband and I are recessive carriers to the DOCK8 variant, which we passed down to Lani.”

She added, “So that was when we found out that all of the health issues Lani has experienced throughout her entire life were not unrelated.”

“All of the health issues Lani has experienced throughout her entire life were not unrelated.”

Dr. Marc Siegel, clinical professor of medicine at NYU Langone Medical Center and a Fox News medical contributor, was not involved in Lani Walter’s care but commented on the condition.

“DOCK 8 is a rare immune condition where the bone marrow doesn’t make enough immune cells and the immune cells that are made have trouble penetrating into dense tissue, like skin,” he told Fox News Digital.

After the diagnosis, Walter’s daughter was invited to visit the National Institute of Health in Maryland, where researchers are studying DOCK8 deficiency. 

“We go there about every six months to see how Lani is doing, and what they recommend as she gets older,” Walter said.

The symptoms of DOCK8 deficiency tend to get more severe as the child grows into late adolescence and early adulthood, doctors have said.

Some of the biggest concerns are respiratory difficulties and a higher risk of various cancers, along with the ongoing risk of infections.

FOUR TEXAS RESIDENTS FOREVER CONNECTED BY TWO KIDNEY DONATIONS IN DIFFERENT CITIES: ‘SUPERBLY TIMED’

To help manage her condition, Walter’s daughter has been getting weekly intravenous immune globulin (IVIG) infusions, which add human antibodies to help fight off infections.

She also takes daily antibiotics to help prevent pneumonia, uses an inhaler to help her respiratory system and takes other medications to treat different illnesses she experiences as a result of her DOCK8 deficiency.

“That’s probably one of the least favorite parts of her day, when I tell her that she needs to take her medicine,” Walter said.

Since the only cure for her condition is a bone marrow transplant, “her doctors recommend that Lani has [the] transplant to help cure the DOCK8 before she gets older.”

What to know about bone marrow transplants

Dr. Brett Osborn, a Florida neurologist and longevity expert at Senolytix, described HSCT as a “transformative reset button” for patients suffering from DOCK8 deficiency.

Osborn is not involved in Lani Walter’s care.

“Imagine your immune system as a computer plagued by a virus,” he told Fox News Digital.

“HSCT can mean a dramatic shift toward immunologic normalcy, providing a new lease on life.”

“HSCT removes the compromised ‘software’ and installs new, functional cells. For individuals with DOCK8 deficiency — who typically face frequent infections, severe allergies and increased cancer risk — HSCT can mean a dramatic shift toward immunologic normalcy, providing a new lease on life.”

Siegel also emphasized the procedure’s importance, calling it a “crucial life-saving procedure.”

The average wait for a transplant is about three months, according to Siegel.

“They are very expensive — about $190,000,” he said. “Insurance generally covers the procedure, but not the cost of finding a donor.”

There is around a 25% chance that a sibling will be a match. In Lani Walter’s case, her 14-year-old sister was not a match.

PENNSYLVANIA MOTHER AND SON BOTH BORN WITH RARE GENETIC DISEASE: ‘CLOSER BECAUSE OF THIS’

“The overall chance of finding a match in the world is 1/3 to 2/3,” Siegel said.

The National Marrow Donor Program (NMDP) maintains a registry of people who are willing to donate. The Walter family found a 90% match on the registry, but the optimal situation would be to find a 100% match.

“There’s much less risk with the bone marrow transplant if you can find that perfect match,” Walter told Fox News Digital. 

‘Time is of the essence’

Lani Walter’s doctors recommend that she receives the donation before she starts middle school. Next year, she will start fifth grade.

“Ideally, we would do it before Lani sees significant issues with other organs in her body,” said Ashleigh Walter. 

“Joining the bone marrow registry could be your most profound gift.”

If the family does not find a perfect match, Walter said she will donate to her daughter, as parents are always half-matches.

“Obviously, we would still love for her to be able to find a full match on the donor registry, which is much less of a risk,” she said. “But if that’s not possible, we can move forward with a half match.”

With partial matches, there is a higher risk of “graft versus host disease,” which is a complication that occurs when donor bone marrow or stem cells attack the recipient.

“It can cause different issues throughout the body, similar to an organ transplant rejection,” Walter said.

If her daughter receives a successful bone marrow transplant, Walter said — she will be cured of DOCK8.

PENNSYLVANIA PARENTS HONOR THEIR DAUGHTER WHO DIED OF A RARE GENETIC DISEASE: ‘SWEETEST GIRL IN THE WORLD’

“She won’t have an immune deficiency anymore,” she said. “She’ll adopt the immune system of the donor, and we won’t have to worry about any of those increased risks at all.”

Walter is hopeful that her daughter — whom she describes as “a little kid at heart” — will soon be healthy and able to return to the activities she loves, including swimming.

“Lani has been on a swim team since kindergarten, and this will be her first summer not doing it,” Walter said. 

She also enjoys bike-riding, crafting, and spending time with her friends and pets.

A call to register

There are millions of potential donors on the bone marrow registry — with more than 300,000 Americans joining just last year — but Walter noted that the likelihood of someone finding a perfect match is very low. 

“The more people who join the registry, the more likely that a perfect match will be there for you,” she said.

THE GIRL WHO CAN’T SMILE: HOW A RARE DISORDER BECAME A YOUNG WOMAN’S ‘GREATEST GIFT’

As a neurosurgical trauma surgeon, Osborn of Florida said he can attest to the dire need for blood and bone marrow donors.

“There is a critical shortage of both,” he said. “In emergency and surgical settings, the availability of blood products can be the difference between life and death.”

It’s “vital” to have diversity in the bone marrow registry, Osborn noted.

“A closely matched donor reduces complications and improves outcomes,” he said.

“This emphasizes why everyone should consider joining the registry. We can all manufacture these potentially life-saving blood products, and by donating, we fulfill a crucial societal need.”

CLICK HERE TO SIGN UP FOR OUR HEALTH NEWSLETTER

While some have the misconception that donation is difficult, Osborn said that’s not the case.

“Donating bone marrow is a low-risk, outpatient procedure associated with only minor discomfort. It’s a great way to pay it forward.”

“In emergency and surgical settings, the availability of blood products can be the difference between life and death.”

People can join the bone marrow registry by visiting the NMDP’s website to order a test kit.

“It’s a really simple cheek swab kit that they’ll send to your house and then you send it back,” Walter said. “You don’t have to pay any money for anything.”

“The more people that join, the more people who can find their perfect match.”

CLICK HERE TO GET THE FOX NEWS APP

“For conditions like DOCK8 deficiency, a bone marrow transplant can offer a chance at a healthier life,” Osborn added.

“Joining the bone marrow registry could be your most profound gift, potentially saving a life with your healthy cells.”

For more Health articles, visit www.foxnews.com/health.